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p14ARF mutants do not bind C1QBP
Stable Identifier
R-HSA-9645766
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
Locations in the PathwayBrowser
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Disease (Homo sapiens)
Diseases of programmed cell death (Homo sapiens)
Defective Intrinsic Pathway for Apoptosis (Homo sapiens)
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function (Homo sapiens)
p14ARF mutants do not bind C1QBP (Homo sapiens)
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Several cancer-derived missense mutations in the CDKN2A gene result in substitution of arginine residues in the C-terminal arginine-rich region of p14ARF ( CDKN2A-4). p14ARF mutants p14ARF R81G, p14ARF R82C, p14ARF R87C, p14ARF R88Q, p14ARF R90H, p14ARF R98Q, p14ARF R99C and p14ARF R98L;R99S are unable to bind to C1QBP (p32) and they do not localize to mitochondria. Binding of these mutants to other p14ARF interacting proteins, such as MDM2 and NPM1 (B23), remains unaffected. Mutations in p14ARF that affect binding to C1QBP interfere with p53-mediated apoptosis (Itahana and Zhang 2008).
Missense mutations affecting arginine residue R98 have also been reported to affect p14ARF localization to nucleolus and to diminish, due to partial mislocalization, the ability of p14ARF to sequester MDM2 (Zhang et al. 1999).
Literature References
PubMed ID
Title
Journal
Year
18538737
Mitochondrial p32 is a critical mediator of ARF-induced apoptosis
Itahana, K
,
Zhang, Y
Cancer Cell
2008
Participants
Input
C1QBP homotrimer [cytosol]
(Homo sapiens)
p14ARF LOF mutants (C1QBP) [cytosol]
(Homo sapiens)
Participates
as an event of
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function (Homo sapiens)
Normal reaction
p14ARF binds C1QBP
(Homo sapiens)
Functional status
Loss of function of p14ARF LOF mutants (C1QBP) [cytosol]
Normal Entity
p14ARF [cytosol]
(Homo sapiens)
Disease Entity
p14ARF [cytosol]
(Homo sapiens)
Status
loss of function
via
missense variant
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
Authored
Orlic-Milacic, M (2019-06-28)
Reviewed
Rizos, H (2019-07-08)
Bennett, DC (2019-08-12)
Created
Orlic-Milacic, M (2019-05-17)
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